What is the main enzyme that is deficient in Fabry Disease?

What is the main enzyme that is deficient in Fabry Disease?

• A. Beta glucocerebrosidase
• B. Sphingomyelinase
• C. Alpha galactosidase A
• D. N acetylglucosaminidase

Answer: (C)

In Fabry Disease, the primary enzyme that is deficient is alpha-galactosidase A. This enzyme is crucial for the breakdown of a specific type of fat called globotriaosylceramide (Gb3). When alpha-galactosidase A is deficient, substrates accumulate within lysosomes, leading to various systemic manifestations associated with the disease, including pain, skin lesions, renal dysfunction, and cardiac issues. The absence of this enzyme disrupts normal lipid metabolism, resulting in the buildup of Gb3 and associated toxic effects on cells, contributing to the clinical symptoms of Fabry Disease. Therefore, understanding the role of alpha-galactosidase A is essential in diagnosing and managing Fabry Disease effectively.

In Fabry Disease, the primary enzyme that is deficient is alpha-galactosidase A. This enzyme is crucial for the breakdown of a specific type of fat called globotriaosylceramide (Gb3). When alpha-galactosidase A is deficient, substrates accumulate within lysosomes, leading to various systemic manifestations associated with the disease, including pain, skin lesions, renal dysfunction, and cardiac issues.

The absence of this enzyme disrupts normal lipid metabolism, resulting in the buildup of Gb3 and associated toxic effects on cells, contributing to the clinical symptoms of Fabry Disease. Therefore, understanding the role of alpha-galactosidase A is essential in diagnosing and managing Fabry Disease effectively.